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See other TSC2 CNV Assays ›
Gene Symbol
TSC2
Assay Reference Genome
Location

Chr.16:2060289 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03951785_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 7249

Gene Name:

 tuberous sclerosis 2

Gene Aliases:

 LAM, PPP1R160, TSC4

Location:

 Chr.16:2047804-2088720 on Build GRCh38

Assay Gene Location:

 Within Intron 11
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSC2 NM_000548.4 NP_000539.2
NM_001077183.2 NP_001070651.1
NM_001114382.2 NP_001107854.1
NM_001318827.1 NP_001305756.1
NM_001318829.1 NP_001305758.1
NM_001318831.1 NP_001305760.1
NM_001318832.1 NP_001305761.1
XM_005255529.4 XP_005255586.2
XM_005255531.4 XP_005255588.2
XM_011522636.2 XP_011520938.1
XM_011522637.2 XP_011520939.1
XM_011522638.2 XP_011520940.2
XM_011522639.2 XP_011520941.1
XM_011522640.2 XP_011520942.1
XM_017023615.1 XP_016879104.1
XM_017023616.1 XP_016879105.1
XM_017023617.1 XP_016879106.1
XM_017023618.1 XP_016879107.1
AB210000.1
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BX647816.1 CAI46010.1
KJ534954.1
KJ534955.1
KJ534956.1
KJ534957.1
KJ534958.1
KJ534982.1
KJ534983.1
KJ534984.1
KJ534985.1
KJ535011.1
KJ535022.1
KJ535038.1
KJ535039.1
KJ535051.1
KJ535091.1
KJ535094.1
X75621.1 CAA53287.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication TBC1D24 NME3 CCNF RAB26 MSRB1 CAPN15 MEIOB LOC101929280 SNHG19 PRR35 LOC100287175 HBA2 HBZ C16orf91 MLST8 SNORA10 DNASE1L2 LOC105371047 PDIA2 LOC105371045 RAB40C MIR1225 MIR662 WASIR2 MIR3178 LOC105371046 LOC107984876 FLJ42627 PRSS27 TELO2 HBA1 TPSAB1 AMDHD2 TRAF7 JMJD8 FBXL16 ARHGDIG WDR90 TMEM204 WDR24 RPUSD1 SLC9A3R2 LUC7L POLR3K MIR3180-5 ABCA17P MIR6511B1 IGFALS SNORD60 NUBP2 MIR6767 IFT140 NTN3 AXIN1 PIGQ HBQ1 MIR940 CASKIN1 C1QTNF8 SSTR5 ATP6V0C LOC105371049 RPL23AP5 TMEM8A KCTD5 NOXO1 NHLRC4 MIR3176 LOC105371184 RNPS1 SNORA78 HS3ST6 MCRIP2 HAGH FAHD1 MIR4516 STUB1 ECI1 BRICD5 LINC00235 HBM GNPTG WFIKKN1 PRSS29P RPL3L TBL3 RNF151 CLCN7 LOC105371038 C16orf59 BAIAP3 TSR3 SSTR5-AS1 LINC00254 METRN FAM173A SPSB3 TPSD1 SOX8 UNKL LOC652276 NPW SNHG9 RPS2 LMF1 LMF1-AS1 ERVK13-1 PDPK1 DDX11L10 MIR6768 RAB11FIP3 CACNA1H CCDC154 MSLN TPSG1 NPRL3 SNRNP25 METTL26 MIR6859-4 PGP SYNGR3 CCDC78 PKD1 NME4 LOC106660606 NTHL1 LOC729652 NDUFB10 RHOT2 GFER RGS11 TSC2 ZNF598 MPG RHBDF1 CEMP1 MRPL28 HAGHL MAPK8IP3 CRAMP1 LOC107987233 ABCA3 DECR2 GNG13 TPSB2 MRPS34 EME2 UBE2I CHTF18 NARFL MIR4717 FAM234A MIR3677 MIR5587 PTX4 MIR3177 E4F1 PRR25 HN1L RHBDL1 SNORA64 LOC100134368
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss TSC2 SLC9A3R2 NOXO1 NPW ZNF598 SYNGR3 GFER TBL3 NTHL1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR1225 MIR4516 TSC2 SLC9A3R2 NPW ZNF598 SYNGR3 SNHG9 RPS2 LOC105371049 PKD1 MIR6511B1 RPL3L MSRB1 TBL3 NTHL1 RNF151 NDUFB10 NOXO1 GFER SNORA10 SNORA78 HS3ST6 SNORA64
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR1225 TSC2 SLC9A3R2 NPW ZNF598 SYNGR3 SNHG9 RPS2 LOC105371049 PKD1 MIR6511B1 TBL3 NTHL1 RNF151 NDUFB10 NOXO1 GFER SNORA10 SNORA78 SNORA64
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss CASKIN1 MIR1225 MIR4516 TSC2 TRAF7 MIR3180-5 LOC105371049 PKD1 MIR6511B1 RAB26 SNORD60 SNHG19

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